{"id":"W2976674170","doi":"10.1038/s41431-019-0519-x","title":"Severe neurodevelopmental disease caused by a homozygous TLK2 variant","year":2019,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"National Human Genome Research Institute; National Heart, Lung, and Blood Institute; Türkiye Bilimsel ve Teknolojik Araştırma Kurumu; Medical Research Council; Newton Fund; Broad Institute; National Eye Institute; Wellcome Trust","keywords":"Missense mutation; Haploinsufficiency; Genetics; Exome sequencing; Biology; Phenotype; Exon; Compound heterozygosity; Disease; Exome; Gene; Neurodevelopmental disorder; Heterozygote advantage; Allele; Medicine; Pathology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002058556,0.0001827714,0.0001576403,0.00005047232,0.00008663073,0.00005967051,0.000392062,0.0000250406,0.00009989158],"category_scores_gemma":[0.00001905904,0.0001663339,0.000152123,0.0000413108,0.0000449138,0.000003917649,0.0001614011,0.0001192283,0.00005969626],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001390014,"about_ca_system_score_gemma":0.0001224565,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":3.885949e-7,"about_ca_topic_score_gemma":6.008822e-7,"domain_scores_codex":[0.9987891,0.0001689985,0.0003934462,0.000230089,0.0001948339,0.0002235817],"domain_scores_gemma":[0.9990188,0.00000461431,0.0002516226,0.0003083849,0.0001194505,0.0002971255],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002689505,0.0004750652,0.01336887,0.00006286406,0.0002933307,0.003186452,0.0002501371,0.000743145,0.9195081,0.00002853408,0.05871219,0.003102375],"study_design_scores_gemma":[0.01029412,0.006150631,0.4273797,0.0001972525,0.0004537964,0.00296069,0.0005168239,0.00009408148,0.02771887,0.0001655598,0.5217156,0.002352915],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9955605,0.002261969,0.0001171561,0.00005225437,0.0003224142,0.0001087934,0.00006096003,0.000004813273,0.001511093],"genre_scores_gemma":[0.9971523,0.0002895408,0.0002391054,0.0004170687,0.0002765504,4.307537e-7,0.00007931169,0.00005941201,0.00148624],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8917892,"threshold_uncertainty_score":0.6782901,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006841843221110016,"score_gpt":0.2074232609902779,"score_spread":0.2005814177691679,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}